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6q16 microdeletion syndrome

Disease definition

A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

ORPHA:171829

Classification level: Disorder
  • Synonym(s):
    • Del(6)(q16)
    • Monosomy 6q16
    • Prader-Willi-like syndrome due to microdeletion 6q16
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: -
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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